Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C4025876
Disease: Abnormality of the fontanelles or cranial sutures
Abnormality of the fontanelles or cranial sutures 		2 0 2 0.50 0 0
CUI: C4025759
Disease: Abnormal mitral valve morphology
Abnormal mitral valve morphology 		5 0 2 0.29 0 0
CUI: C0003910
Disease: Articulation Disorders
Articulation Disorders 		1 0 1 0.25 0 0
CUI: C1971810
Disease: Congenital cardiovascular disorder
Congenital cardiovascular disorder 		1 0 1 0.25 0 0
CUI: C2675369
Disease: Chromosome 22q11.2 Microduplication Syndrome
Chromosome 22q11.2 Microduplication Syndrome 		1 0 1 0.25 0 0
CUI: C3531771
Disease: Dextrotransposition of the great arteries
Dextrotransposition of the great arteries 		1 0 1 0.25 0 0
CUI: C4016770
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME 		1 0 1 0.25 0 0
CUI: C4225419
Disease: RITSCHER-SCHINZEL SYNDROME 2
RITSCHER-SCHINZEL SYNDROME 2 		1 0 1 0.25 0 0
CUI: C4310801
Disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR 		1 0 1 0.25 0 0
CUI: C4551776
Disease: RITSCHER-SCHINZEL SYNDROME 1
RITSCHER-SCHINZEL SYNDROME 1 		1 0 1 0.25 0 0
CUI: C0152216
Disease: Esophoria
Esophoria 		2 0 1 0.20 0 0
CUI: C0345065
Disease: Cervical aortic arch
Cervical aortic arch 		2 0 1 0.20 0 0
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		2 12 1 0.20 6 0.50
CUI: C3151189
Disease: C9 Deficiency
C9 Deficiency 		2 0 1 0.20 0 0
CUI: C4733128
Disease: familial chordoma
familial chordoma 		2 0 1 0.20 0 0
CUI: C4744527
Disease: Temporal Lobe Pleomorphic Xanthoastrocytoma
Temporal Lobe Pleomorphic Xanthoastrocytoma 		2 0 1 0.20 0 0
CUI: C1861443
Disease: Facial hemangioma
Facial hemangioma 		9 0 2 0.18 0 0
CUI: C0155336
Disease: Esotropia with accommodative compensation
Esotropia with accommodative compensation 		3 0 1 0.17 0 0
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		10 0 2 0.17 0 0
CUI: C1266175
Disease: Parachordoma
Parachordoma 		3 0 1 0.17 0 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		11 0 2 0.15 0 0
CUI: C0221215
Disease: Common atrioventricular canal
Common atrioventricular canal 		4 0 1 0.14 0 0
CUI: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		4 0 1 0.14 0 0
CUI: C1321907
Disease: Congenital absence of parathyroid gland
Congenital absence of parathyroid gland 		4 0 1 0.14 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 1 0.14 0 0